PMID- 37212014
OWN - NLM
STAT- MEDLINE
DCOM- 20230605
LR  - 20230605
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 6
DP  - 2023 Jun 10
TI  - [Prenatal diagnosis and genetic analysis of a fetus with partial deletion of Yq 
      and mosaicism of 45,X].
PG  - 744-749
LID - 10.3760/cma.j.cn511374-20220809-00534 [doi]
AB  - OBJECTIVE: To carry out prenatal diagnosis and genetic analysis for a fetus with 
      disorders of sex development (DSDs). METHODS: A fetus with DSDs who was 
      identified at the Shenzhen People's Hospital in September 2021 was selected as 
      the study subject. Combined molecular genetic techniques including quantitative 
      fluorescence PCR (QF-PCR), multiplex ligation-dependent probe amplification 
      (MLPA), chromosomal microarray analysis (CMA), quantitative real-time PCR (qPCR), 
      as well as cytogenetic techniques such as karyotyping analysis and fluorescence 
      in situ hybridization (FISH) were applied. Ultrasonography was used to observe 
      the phenotype of sex development. RESULTS: Molecular genetic testing suggested 
      that the fetus had mosaicism of Yq11.222qter deletion and X monosomy. Combined 
      with the result of cytogenetic testing, its karyotype was determined as mos 
      45,X[34]/46,X,del(Y)(q11.222)[61]/47,X,del(Y)(q11.222),del(Y)(q11.222)[5]. 
      Ultrasound examination suggested hypospadia, which was confirmed after elective 
      abortion. Combined the results of genetic testing and phenotypic analysis, the 
      fetus was ultimately diagnosed with DSDs. CONCLUSION: This study has applied a 
      variety of genetic techniques and ultrasonography to diagnose a fetus with DSDs 
      with a complex karyotype.
FAU - Wang, Lijuan
AU  - Wang L
AD  - Forensic Evidence Laboratory, Shenzhen People's Hospital (the Second Clinical 
      Medical College of Jinan University; the First Affiliated Hospital of Southern 
      University of Science and Technology), Shenzhen, Guangdong 518020, China. 
      guohui600@163.com.
FAU - Guo, Hui
AU  - Guo H
FAU - Lin, Qi
AU  - Lin Q
FAU - Hu, Zhiyang
AU  - Hu Z
FAU - He, Huiyan
AU  - He H
FAU - Ye, Mei
AU  - Ye M
FAU - Liang, Zhuojian
AU  - Liang Z
FAU - Hu, Wenlong
AU  - Hu W
FAU - Gao, Hui
AU  - Gao H
FAU - Ma, Di
AU  - Ma D
FAU - Song, Yaqin
AU  - Song Y
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Prenatal Diagnosis
MH  - *Mosaicism
MH  - Chromosomes, Human, X
MH  - Chromosomes, Human, Y
MH  - Humans
MH  - Male
EDAT- 2023/05/22 06:42
MHDA- 2023/05/23 06:42
CRDT- 2023/05/22 04:03
PHST- 2023/05/23 06:42 [medline]
PHST- 2023/05/22 06:42 [pubmed]
PHST- 2023/05/22 04:03 [entrez]
AID - 940640133 [pii]
AID - 10.3760/cma.j.cn511374-20220809-00534 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jun 10;40(6):744-749. doi: 
      10.3760/cma.j.cn511374-20220809-00534.